rs121912885

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs121912885(C;T)

Make rs121912885(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47983435

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs121912885
dbSNP (classic)	rs121912885
ClinGen	rs121912885
ebi	rs121912885
HLI	rs121912885
Exac	rs121912885
Gnomad	rs121912885
Varsome	rs121912885
LitVar	rs121912885
Map	rs121912885
PheGenI	rs121912885
Biobank	rs121912885
1000 genomes	rs121912885
hgdp	rs121912885
ensembl	rs121912885
geneview	rs121912885
scholar	rs121912885
google	rs121912885
pharmgkb	rs121912885
gwascentral	rs121912885
openSNP	rs121912885
23andMe	rs121912885
SNPshot	rs121912885
SNPdbe	rs121912885
MSV3d	rs121912885
GWAS Ctlg	rs121912885

Max Magnitude

0

OMIM	120140
Desc
Variant	0034
Related	also

ClinVar
Risk	rs121912885(A;A) rs121912885(T;T)
Alt	rs121912885(A;A) rs121912885(T;T)
Reference	Rs121912885(C;C)
Significance	Pathogenic
Disease	Stickler syndrome Stickler syndrome type 1
Variation	info
Gene	COL2A1
CLNDBN	Stickler syndrome, type I, nonsyndromic ocular Stickler syndrome type 1
Reversed	1
HGVS	NC_000012.11:g.48377218G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018927.29, RCV000144727.1,